Rodewald A, Zankl M, Zankl H, Zang K D
J Med Genet. 1980 Aug;17(4):301-5. doi: 10.1136/jmg.17.4.301.
Cytogenetic and dermatoglyphic features were studied in a large family with an inherited 15;21 translocation. Of 35 healthy members of the family, 21 carried the translocation chromosome and 14 were chromosomally normal. There were six members with Down's syndrome who had the translocation. Dermatoglyphic studies showed that carriers of this balanced translocation had the following peculiarities significantly more often than the general population. On the hands, they had ulnar loops on the fingertips, symmetrical high terminations of the A line, symmetrical ulnar loops on the hypothenar areas, distal loops in the 3rd interdigital areas, open fields in the 4th interdigital areas, axial triradii in the distal position, and single transverse palmar creases (Sydney lines). On the feet, they had small distal loops on the hallucal area and distal loops in the 4th interdigital areas. The translocation carriers also had significantly more often than non-carrier relatives symmetrical high terminations of the A line, open fields in the 4th interdigital areas, distal axial triradii, and Sydney lines. On the feet, they had small distal loops on the hallucal areas, distal loops in the 4th interdigital areas, and tibial loops on the proximal hypothenar areas. The data obtained from this study, and especially the values of the Walker and general indices, indicate that some of the dermatoglyphic stigmata of Down's syndrome are directly associated with the 15;21 translocation carrier state and can therefore be used for predicting that state.
对一个有遗传性15;21易位的大家族进行了细胞遗传学和皮纹学特征研究。在该家族的35名健康成员中，21人携带易位染色体，14人染色体正常。有6名患有唐氏综合征的成员携带了这种易位。皮纹学研究表明，这种平衡易位的携带者具有以下特征，其出现频率明显高于一般人群。在手上，他们指尖有尺侧箕纹、A线对称高位终止、小鱼际区对称尺侧箕纹、第3指蹼区远端箕纹、第4指蹼区开口纹、远端轴三叉点和单一横贯掌褶纹（悉尼线）。在脚上，他们拇趾区有小的远端箕纹和第4指蹼区远端箕纹。易位携带者还比非携带者亲属更频繁地出现A线对称高位终止、第4指蹼区开口纹、远端轴三叉点和悉尼线。在脚上，他们拇趾区有小的远端箕纹、第4指蹼区远端箕纹以及小鱼际近端区胫侧箕纹。本研究获得的数据，尤其是沃克指数和一般指数的值，表明唐氏综合征的一些皮纹学特征与15;21易位携带者状态直接相关，因此可用于预测该状态。
